ClinVar

NM_003977.4(AIP):c.887C>A (p.Pro296Gln)

Gene:

AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67490887 (on Assembly GRCh38)
• Chr11: 67258358 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.887C>A (p.Pro296Gln)

HGVS:

• NC_000011.10:g.67490887C>A
• NG_008969.1:g.12854C>A
• NM_001302959.2:c.710C>A
• NM_001302960.2:c.*27C>A
• NM_003977.4:c.887C>AMANE SELECT
• NP_001289888.1:p.Pro237Gln
• NP_003968.2:p.Pro296Gln
• NP_003968.3:p.Pro296Gln
• LRG_460t1:c.887C>A
• LRG_460:g.12854C>A
• LRG_460p1:p.Pro296Gln
• NC_000011.9:g.67258358C>A
• NM_003977.2:c.887C>A

This HGVS expression did not pass validation

Protein change:

P237Q

Molecular consequence:

• NM_001302960.2:c.*27C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001302959.2:c.710C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003977.4:c.887C>A - missense variant - [Sequence Ontology: SO:0001583]